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Article

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

American journal of medical genetics. Part A - 1 Mar 2005

Janecke Andreas R, Hennies Hans Christian, Günther Barbara, Gansl Gabriele, Smolle Josef, Messmer Elisabeth M, Utermann Gerd, Rittinger Olaf

Abstract excerpt

Keratitis-ichthyosis-deafness syndrome (KID; MIM 148210) is a rare congenital disorder characterized by vascularizing keratitis, sensorineural hearing loss (HL), and progressive erythrokeratoderma. Clinical variability including a fatal course of KID in the first year of life has been reported. Germline missense mutations in GJB2, encoding connexin-26, were recently found to cause KID in 14 unrelated juvenile and...

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Source

Identifiers

PMID: 15633193
DOI: 10.1002/ajmg.a.30515

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.PMID 15633193Read ↗

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